HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6714230G>T , CM000681.2:g.6714230G>T | GRCh38 |
NC_000019.9:g.6714241G>T , CM000681.1:g.6714241G>T | GRCh37 |
NC_000019.8:g.6665241G>T | NCBI36 |
NG_009557.1:g.11422C>A , LRG_27:g.11422C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.495C>A | ENSP00000512083.1:p.Ile165= | |
ENST00000245907.11:c.618C>A MANE Select | ENSP00000245907.4:p.Ile206= | |
ENST00000245907.10:c.618C>A | ENSP00000245907.4:p.Ile206= | |
ENST00000595577.1:n.122C>A | ||
NM_000064.3:c.618C>A | NP_000055.2:p.Ile206= | |
NM_000064.4:c.618C>A MANE Select | NP_000055.2:p.Ile206= |